| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.165380701T>C | CA349034225 | SCN2A | c.4418T>C (p.Ile1473Thr) c.*2737T>C (n.*2737T>C) c.*2405T>C (n.*2405T>C) c.*4941T>C (n.*4941T>C) c.*2360T>C (n.*2360T>C) c.4022T>C (p.Ile1341Thr) n.7486T>C c.4388T>C (p.Ile1463Thr) c.3665T>C (p.Ile1222Thr) c.2216T>C (p.Ile739Thr) | ClinVar dbSNP gnomAD v4 |
| 2 | g.165380701T= | CA1304561050 | SCN2A | c.4418T= (p.Ile1473=) c.*2737T= (n.*2737T=) c.*2405T= (n.*2405T=) c.*4941T= (n.*4941T=) c.*2360T= (n.*2360T=) c.4022T= (p.Ile1341=) n.7486T= c.4388T= (p.Ile1463=) c.3665T= (p.Ile1222=) c.2216T= (p.Ile739=) | dbSNP |